Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23603 | 71032;71033;71034 | chr2:178575325;178575324;178575323 | chr2:179440052;179440051;179440050 |
| N2AB | 21962 | 66109;66110;66111 | chr2:178575325;178575324;178575323 | chr2:179440052;179440051;179440050 |
| N2A | 21035 | 63328;63329;63330 | chr2:178575325;178575324;178575323 | chr2:179440052;179440051;179440050 |
| N2B | 14538 | 43837;43838;43839 | chr2:178575325;178575324;178575323 | chr2:179440052;179440051;179440050 |
| Novex-1 | 14663 | 44212;44213;44214 | chr2:178575325;178575324;178575323 | chr2:179440052;179440051;179440050 |
| Novex-2 | 14730 | 44413;44414;44415 | chr2:178575325;178575324;178575323 | chr2:179440052;179440051;179440050 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/L | None | None | 1.0 | N | 0.667 | 0.522 | 0.719263558215 | gnomAD-4.0.0 | 1.59189E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43287E-05 | 0 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9981 | likely_pathogenic | 0.9981 | pathogenic | -2.027 | Highly Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| F/C | 0.99 | likely_pathogenic | 0.9902 | pathogenic | -1.299 | Destabilizing | 1.0 | D | 0.839 | deleterious | D | 0.559975319 | None | None | N |
| F/D | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -2.873 | Highly Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| F/E | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -2.613 | Highly Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| F/G | 0.9989 | likely_pathogenic | 0.9989 | pathogenic | -2.507 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| F/H | 0.9979 | likely_pathogenic | 0.9979 | pathogenic | -1.832 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| F/I | 0.929 | likely_pathogenic | 0.9236 | pathogenic | -0.457 | Destabilizing | 1.0 | D | 0.798 | deleterious | N | 0.497287854 | None | None | N |
| F/K | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -1.854 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| F/L | 0.9932 | likely_pathogenic | 0.9925 | pathogenic | -0.457 | Destabilizing | 1.0 | D | 0.667 | neutral | N | 0.504809499 | None | None | N |
| F/M | 0.9796 | likely_pathogenic | 0.9789 | pathogenic | -0.348 | Destabilizing | 0.999 | D | 0.797 | deleterious | None | None | None | None | N |
| F/N | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -2.585 | Highly Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| F/P | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -0.994 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| F/Q | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -2.26 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| F/R | 0.9992 | likely_pathogenic | 0.9992 | pathogenic | -1.966 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| F/S | 0.9986 | likely_pathogenic | 0.9985 | pathogenic | -3.031 | Highly Destabilizing | 1.0 | D | 0.826 | deleterious | D | 0.559975319 | None | None | N |
| F/T | 0.9988 | likely_pathogenic | 0.9987 | pathogenic | -2.634 | Highly Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| F/V | 0.9419 | likely_pathogenic | 0.936 | pathogenic | -0.994 | Destabilizing | 1.0 | D | 0.757 | deleterious | N | 0.48031878 | None | None | N |
| F/W | 0.9613 | likely_pathogenic | 0.9567 | pathogenic | -0.066 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| F/Y | 0.7975 | likely_pathogenic | 0.7878 | pathogenic | -0.424 | Destabilizing | 1.0 | D | 0.587 | neutral | N | 0.502749265 | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.